Article
[Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 28 Sept 2017
Zona Enrica, Zacchia Miriam, Di Iorio Valentina, Capolongo Giovanna, Rinaldi Luca, Capasso Giovambattista
Abstract excerpt
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with renal and extra-renal involvement. The wide spectrum of clinical manifestations is associated to the high genetic heterogeneity. To date 21 genes have been identified in humans and the majority of them encode proteins located on the basal body of the primary cilium. For this reason the disease is has been included among the 'ciliopathies'....
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